Cardiomyopathies ; diagnosis ; Carnitine ; deficiency ; Humans ; Hyperammonemia ; diagnosis ; Infant, Newborn ; Male ; Muscular Diseases ; diagnosis

Cardiomyopathies ; diagnosis ; therapy ; Carnitine ; deficiency ; Female ; Humans ; Hyperammonemia ; diagnosis ; therapy ; Infant ; Muscular Diseases ; diagnosis ; therapy

BACKGROUND: Differential diagnosis between a generalized tonic-clonic seizure and syncope may be difficult due to similar clinical features. The need for a biological marker to distinguish a seizure from syncope has been emphasized from past studies. Transient hyperammonemia could be an indicator of recent convulsive seizure. The purpose of this study is to review the use of plasma ammonia level in the differential diagnosis of seizure and syncope. METHODS: Adult patients who were admitted to the Department of Neurology at Gangnam Severance Hospital with final diagnosis of a generalized tonic-clonic seizure or syncope were eligible for this study. Plasma ammonia levels were checked within 8 hr after an insult. RESULTS: Among the patients with a loss of consciousness who underwent analysis of plasma ammonia level, diagnoses were made with a seizure (n=65) and syncope (n=38). The seizure group had 70.29+/-70.86 micromol/L and the syncope group had 28.37+/-10.27 micromol/L of ammonia level, respectively. The seizure group presented with a significantly increased plasma ammonia (p<0.05) compared to the syncope group. The cut-off value with the reliable diagnostic level was defined as 36 micromol/L (=61.308 microg/dL) with a sensitivity of 0.65 and specificity of 0.80 by receiver operating characteristic (ROC) curve analysis. CONCLUSIONS: Plasma ammonia measurement during acute post-ictal period may be a useful test for the identification and the differential diagnosis of seizures and syncope.
Adult ; Ammonia ; Biomarkers ; Diagnosis, Differential ; Humans ; Hyperammonemia ; Neurology ; Plasma ; ROC Curve ; Seizures ; Sensitivity and Specificity ; Syncope ; Unconsciousness

5-Fluorouracil (5-FU) is a chemotherapeutic agent commonly used in the treatment of a variety of solid tumors. Common adverse effects of fluorouracil chemotherapy include diarrhea, mucositis and myelosuppression. However, neurologic toxicities including hyperammonemic encephalopathy are rare and not well recognized. Transient hyperammonemic encephalopathy related to continuous infusion of high-dose 5-FU has rarely been reported. We report four cases of transient hyperammonemic encephalopathy in patients receiving continuous infusion of 5-FU. The mentality of all patients was altered during or just after the infusion of 5-FU. There were no focal neurological signs, laboratory excluding hyperammonemia or radiological abnormalities. After patients received adequate hydration and repeated lactulose enema, the mental status completely recovered within one or two days, and serum ammonium level subsequently returned to normal. In conclusion, we suggest that a transient hyperammonemic encephalopathy should be considered in differential diagnosis of patients receiving continuous 5-FU infusion with altered mentality.
Ammonium Compounds ; Diagnosis, Differential ; Diarrhea ; Drug Therapy ; Enema ; Fluorouracil* ; Humans ; Hyperammonemia ; Lactulose ; Mucositis

OBJECTIVE: To explore the genetic basis of a neonate with argininosuccinic aciduria (ASA). METHODS: A neonate with lethargy and food refusal was admitted. The patient had myoclonus, myasthenia, uroschesis, irregular breathing and paroxysmal ventricular tachycardia, and died at 75 hours after birth. Laboratory test showed marked increase in blood ammonia (1249.8 μmol/L). Peripheral blood samples of the patient, her parents and sister were collected and subjected to trio whole-exome sequencing. RESULTS: Whole-exome sequencing revealed that the patient has carried compound heterozygous mutations of the argininosuccinate lyase (ASL) gene, namely c.425(exon5)_c.426(exon5) insAGCTCCCAGCT (p.Thr142Thrfs*37) and c.626(exon8)delT (p.Leu209Argfs*42). The patient was diagnosed as ASA caused by ASL gene mutations. Her parents and her elder sister were heterozygous carriers of the above mutations and had a normal phenotype. CONCLUSION ASA is a severe congenital genetic metabolic disease and can manifest as onset of hyperammonemia in neonates. The clinical diagnosis is difficult and ASL gene testing may be helpful.
Argininosuccinate Lyase ; genetics ; Argininosuccinic Aciduria ; diagnosis ; genetics ; Female ; Genetic Testing ; Humans ; Hyperammonemia ; Infant, Newborn ; Pedigree

OBJECTIVE: To analyze the blood free carnitine (C0) level and SLC22A5 gene variants in 17 neonates with Primary carnitine deficiency (PCD) and to determine its incidence in local area and explore the correlation between C0 level and genotype. METHODS: 148 043 newborns born in 9 counties (cities and districts) of Ningde city from September 2016 to June 2021 were selected as study subjects. Blood free carnitine and acyl carnitine of 148 043 neonates were analyzed. Variants of the SLC22A5 gene were screened in those with blood C0 < 10 µmol/L, or C0 between 10 ∼ 15 µmol/L. Correlation between the free carnitine level and genetic variants was analyzed. RESULTS: In total 17 neonates were diagnosed with PCD, which yielded a prevalence of 1/8 707 in the region. Twelve variants of the SLC22A5 gene were identified, with the common ones including c.760C>T, c.1400C>G and c.51C>G. Compared with those carrying other variants of the gene, children carrying the c.760C>T variant had significantly lower C0 values (P < 0.01). CONCLUSION The prevalence of PCD is relatively high in Ningde area, and intervention measures should be taken to prevent and control the disease. The c. 760C>T variant is associated with lower level of C0, which can provide a clue for the diagnosis.
Humans ; Infant, Newborn ; Cardiomyopathies/diagnosis* ; Carnitine ; Hyperammonemia/diagnosis* ; Muscular Diseases/genetics* ; Solute Carrier Family 22 Member 5/genetics*

Propionic acidemia is an autosomal-recessive inborn error of branched-chain amino acid metabolism. It is caused by deficient activity of propionyl-coenzyme A carboxylase and is characterized by a spectrum of clinical and biochemical findings. It usually manifests in the neonatal period or early infancy. Since Childs et al first described the propionic acidemia of infants in 1961, it has rarely been reported. There have been no previous report of this organic acidemia in Korea. We present a case of propionic acidemia in a 4-day old male, who had poor feeding, dehydration, and hyperammonemia and died at 12 days of age. Diagnosis was established by gas chromatography and mass spectrometry, and this case is the first reported propionic acidemia in literature in Korea. A review of the related literature was included.
Child ; Chromatography, Gas ; Dehydration ; Diagnosis ; Diethylpropion* ; Humans ; Hyperammonemia ; Infant ; Korea ; Male ; Mass Spectrometry ; Metabolism ; Methylmalonyl-CoA Decarboxylase ; Propionic Acidemia*

Propionic acidemia is an autosomal-recessive inborn error of branched-chain amino acid metabolism. It is caused by deficient activity of propionyl-coenzyme A carboxylase and is characterized by a spectrum of clinical and biochemical findings. It usually manifests in the neonatal period or early infancy. Since Childs et al first described the propionic acidemia of infants in 1961, it has rarely been reported. There have been no previous report of this organic acidemia in Korea. We present a case of propionic acidemia in a 4-day old male, who had poor feeding, dehydration, and hyperammonemia and died at 12 days of age. Diagnosis was established by gas chromatography and mass spectrometry, and this case is the first reported propionic acidemia in literature in Korea. A review of the related literature was included.
Child ; Chromatography, Gas ; Dehydration ; Diagnosis ; Diethylpropion* ; Humans ; Hyperammonemia ; Infant ; Korea ; Male ; Mass Spectrometry ; Metabolism ; Methylmalonyl-CoA Decarboxylase ; Propionic Acidemia*

Citrullinemia is one of the five urea cycle defects and is caused by argininosuccinic acid synthetase deficiency ; conversion of citrulline to argininosuccinic acid is blocked. Severe hyperammonemia typically develops in the neonate within a few days and symptoms such as vomiting, lethargy, convulsion, coma follows rapidly. The diagnosis is supported by high citrulline level in serum, urine, CSF and decreased activity of argininosuccinic acid synthetase in liver biopsy. We experienced a 3-day-old male neonate with poor activity, lethargy, convulsion, and coma who was diagnosed as citrullinemia by markedly elevated plasma and urine citrulline level with hyperammonemia. We report this case with brief review of the related literature.
Argininosuccinic Acid ; Biopsy ; Citrulline ; Citrullinemia* ; Coma ; Diagnosis ; Humans ; Hyperammonemia ; Infant, Newborn ; Lethargy ; Ligases ; Liver ; Male ; Plasma ; Seizures ; Urea ; Vomiting

Citrullinemia is one of the five urea cycle defects and is caused by argininosuccinic acid synthetase deficiency ; conversion of citrulline to argininosuccinic acid is blocked. Severe hyperammonemia typically develops in the neonate within a few days and symptoms such as vomiting, lethargy, convulsion, coma follows rapidly. The diagnosis is supported by high citrulline level in serum, urine, CSF and decreased activity of argininosuccinic acid synthetase in liver biopsy. We experienced a 3-day-old male neonate with poor activity, lethargy, convulsion, and coma who was diagnosed as citrullinemia by markedly elevated plasma and urine citrulline level with hyperammonemia. We report this case with brief review of the related literature.
Argininosuccinic Acid ; Biopsy ; Citrulline ; Citrullinemia* ; Coma ; Diagnosis ; Humans ; Hyperammonemia ; Infant, Newborn ; Lethargy ; Ligases ; Liver ; Male ; Plasma ; Seizures ; Urea ; Vomiting